J Frézal

9.7k citations

210 papers · 6.7k indexed · 1 hit paper · h-index 31

Impact in

Genetics top 0.1%
- Neurogenetic and Muscular Disorders Research
Molecular Biology top 1%
- RNA modifications and cancer
- RNA Research and Splicing
- Retinal Development and Disorders
- Muscle Physiology and Disorders

Papers in

Clinical Biochemistry 21
- Metabolism and Genetic Disorders 21
Genetics 66
- Digestive system and related health 18
- Genomic variations and chromosomal abnormalities 12
- Diabetes and associated disorders 7
- Neurogenetic and Muscular Disorders Research 7

Co-authors: Arnold Münnich Judith Melki Denis Le Paslier Philippe Burlet Olivier Clermont Philippe Millasseau Corinne Cruaud Massimo Zeviani
Journals: Human Genetics (20 papers)Cytogenetic and Genome Research (18 papers)Annals of Human Genetics (8 papers)Journal of Inherited Metabolic Disease (4 papers)Genomics (3 papers)
Partner nations: France United States United Kingdom

In The Last Decade

J Frézal

197 papers receiving 6.4k citations

Hit Papers

align trajectories log scale

Identification and characterization of a spinal muscular atrophy-determining gene 1995 · 3.1k citations

Peers

Countries citing papers authored by J Frézal

Since Specialization

Citations

This map shows the geographic impact of J Frézal's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by J Frézal with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites J Frézal more than expected).

Fields of papers citing papers by J Frézal

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by J Frézal. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by J Frézal. The network helps show where J Frézal may publish in the future.

Co-authors

The 25 scholars most cited alongside J Frézal, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with J Frézal Line = papers co-authored together J Frézal links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	[Recessive congenital methemoglobinemia]. PubMed ·Martine Lamy, J Frézal, Weaver B. Haney, Nathalie Josso	1998	1
2	REPORT on the Fifth International Workshop on Chromosome 9 held at Eynsham, Oxfordshire, UK, September 4–6, 1996 Annals of Human Genetics ·Sue Povey, (unknown), Brian P. Chadwick, J Frézal, Jonathan L. Haines, Margaret A. Knowles, D J Kwiatkowski, Olufunmilayo I. Olopade, Susan A. Slaugenhaupt, Nigel K. Spurr, Martin Smith, Karen P. Steel, Julia A. White, Jeffery M. Vance	1997	25
3	NOMENCLATURE Genomics ·Julia A. White, P.J. McAlpine, Stylianos E. Antonarakis, Howard M. Cann, Janan T. Eppig, E. de Beurs, J Frézal, Doron Lancet, Joseph Nahmias, P. Pearson, Jo Peters, A. Scott, Hamish S. Scott, N.K. Spurr, N. I. Melnyk, Sue Povey	1997	69
4	Retinal–specific guanylate cyclase gene mutations in Leber's congenital amaurosis Nature Genetics ·Isabelle Perrault, Jean‐Michel Rozet, Patrick Calvas, S. Gerber, Agnès Camuzat, Hélène Dollfus, Sophie Châtelin, Eric H. Souied, Anne Marleen Olthof, Corinne Leowski, 暁麗胡, Denis Le Paslier, J Frézal, Jean‐Louis Dufier, Steven J. Pittler, Arnold Munnich, Josseline Kaplan	1996	353
5	A gene for Leber's congenital amaurosis maps to chromosome 17p Human Molecular Genetics ·Agnès Camuzat, Hélène Dollfus, Jean‐Michel Rozet, S. Gerber, Dominique Bonneau, Larissa Gabrielle Souza Ueno, Marie‐Louise Briard, Jean-Louis Dufier, Imad Ghazi, Corinne Leowski, Jean Weissenbach, J Frézal, Susanne Arnold, Josseline Kaplan	1995	33
6	Reply to “The question of heterogeneity in Marfan syndrome” Nature Genetics ·Cathérine Boileau, Claudine Junien, Gwenaëlle Collod‐Béroud, Guillaume Jondeau, Olivier Dubourg, Kone Moussa, Catherine Bonaïti‐Pellié, J Frézal, P Maroteaux	1995	5
7	New X‐linked syndrome of mental retardation, gynecomastia, and obesity is linked to DXS255 American Journal of Medical Genetics ·J Frézal	1992	4
8	Spectrum of phenylketonuria mutations in Western Europe and North Africa, and their relation to polymorphic DNA haplotypes at the phenylalanine hydroxylase locus Human Genetics ·C. Liu, Catherine Caillaud, Françoise Rey, Philippe Labrune, Zhichao Guan, Josué Feingold, J Frézal, Marie‐Louise Briard, J. P. Farriaux, P Guibaud, Hubert Journel, B. Le Marec, Nicole Maurin, J L Nivelon, Henri Plauchu, Jean‐Marie Saudubray, Philippe Tron, Jean Rey, Arnold Münnich, Stanislas Lyonnet	1991	25
9	Human gene mapping 9 : Paris Conference (1987) : Ninth International Workshop on Human Gene Mapping : at the University of Paris, Faculté de Médecine, France, September 6-11, 1987 S. Karger eBooks ·J Frézal, H.P. Klinger	1987	1
10	[Heterogeneity of leucinosis. Correlations between clinical manifestations, protein tolerance and enzyme deficiency]. PubMed ·Xudong Song, O Amédée-Manesme, Arnold Munnich, Joyce J. Welch, Eliane Depondt, C. Charpentier, Dongsheng Wang, Louis Kunian, J Frézal	1982	3
11	[Localization of enolases 1 and 2 on chromosomes 1 and 12 respectively by the analysis of human-mouse hybrids]. Munich Personal RePEc Archive (Ludwig Maximilian University of Munich) ·Emilie Vilcot, Dominique Weil, R. Rebourcet, J Frézal	1977	2
12	[Risk of recurrence of several congenital malformations: anencephaly, spina bifida, cleft palate and cleft lip]. PubMed ·Catherine Bonaïti‐Pellié, J Feingold, Nickcy Mbuthia, J Frézal	1976	3
13	Assignment of the <i>ABO-Np-A</i><i>K</i><sub>1</sub> linkage group to chromosome 9 in man-hamster hybrids Cytogenetic and Genome Research ·N. Van Cong, Dominique Weil, C. Finaz, Claude Cochet, R. Rebourcet, J. de Grouchy, J Frézal	1976	10
14	[Linkage between the HL-A histocompatibility system and the thymidine kinase activity in a human-mouse hybrid]. PubMed ·Абасов Алияр Русланович, Devi Yunianti, Daniela Kessler, Meghan Vesper, J Dausset, J Frézal	1972	1
15	Pathogenesis of vitamin-resistant familial hypophosphataemic rickets. Jean Rey, J Frézal	1966	2
16	Un cas de mosaïque XXXXY/XXXY. Annales de Génétique ·J. de Grouchy, J Frézal, Zahra Amiratiara Salma, M Lamy	1965	1
17	ANENECEPHALY IN FRANCE. PubMed ·J Frézal, Raja Amin Rais Amin, Y. Akishige, Maurice Lamy	1964	51
18	[THE DETECTION OF HETEROZYGOTES]. PubMed ·J Frézal, Mutia Irma	1964	1
19	[Acanthocytosis. Its relations to the congenital absence of beta-lipoproteins]. PubMed ·阿滋楠, M Lamy, J Frézal, J Polonovski, Rey J	1961	13
20	L’AGE MATERNEL ET LE RANG DE NAISSANCE DANS UN ECHANTILLON DE JUMEAUX Human Heredity ·Maurice Lamy, J Frézal, J. de Grouchy, Singla Sl	1954	4

About J Frézal

J Frézal is a scholar working on Clinical Biochemistry, Genetics, Anatomy, Genetics and Ophthalmology, having authored 210 papers that have together received 6.7k indexed citations. Recurring topics across this work include Metabolism and Genetic Disorders (21 papers), Digestive system and related health (18 papers), Genomic variations and chromosomal abnormalities (12 papers), Biochemical and Molecular Research (11 papers), Folate and B Vitamins Research (8 papers), Lysosomal Storage Disorders Research (8 papers), Diabetes and associated disorders (7 papers) and Neurogenetic and Muscular Disorders Research (7 papers). The work is most often cited by research in Genetics (2.9k citations), Molecular Biology (4.7k citations), Clinical Biochemistry (365 citations), Genetics (1.4k citations) and Ophthalmology (426 citations). J Frézal has collaborated with scholars based in France, United States and United Kingdom. Frequent co-authors include Arnold Münnich, Judith Melki, Denis Le Paslier, Philippe Burlet, Olivier Clermont, Philippe Millasseau, Corinne Cruaud, Massimo Zeviani, Jean Weissenbach and Bernard Bénichou. Their work appears in journals such as Human Genetics, Cytogenetic and Genome Research, Annals of Human Genetics, Journal of Inherited Metabolic Disease and Genomics.

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